Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

617 tests · Page 4 of 21

• Bartter syndrome type 3 (CLCNKB gene, NGS)

  Code 10365 · Next-generation sequencing (NGS)

  Genes: CLCNKB

  Turnaround time: 33 working days

• Bartter syndrome type 4A (BSND gene, NGS)

  Code 10366 · Next-generation sequencing (NGS)

  Genes: BSND

  Turnaround time: 33 working days

• Bartter syndrome type 4B (CLCNKA gene, NGS)

  Code 10367 · Next-generation sequencing (NGS)

  Genes: CLCNKA

  Turnaround time: 33 working days

• B-cell clonality – IgH

  Code 3199 · PCR

  Genes: IgH

  Turnaround time: 17 working days

• Beals syndrome (congenital contractural arachnodactyly) (FBN2 gene, NGS)

  Code 10369 · Next-generation sequencing (NGS)

  Genes: FBN2

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (APOB gene, NGS)

  Code 11008 · Next-generation sequencing (NGS)

  Genes: APOB

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (MTTP gene, NGS)

  Code 11007 · Next-generation sequencing (NGS)

  Genes: MTTP

  Turnaround time: 33 working days

• Bernard-Soulier syndrome (GP1BA gene, NGS)

  Code 10372 · Next-generation sequencing (NGS)

  Genes: GP1BA

  Turnaround time: 33 working days

• Bernard-Soulier syndrome (GP1BB gene, NGS)

  Code 10373 · Next-generation sequencing (NGS)

  Genes: GP1BB

  Turnaround time: 33 working days

• Bernard-Soulier syndrome (GP9 gene, NGS)

  Code 10371 · Next-generation sequencing (NGS)

  Genes: GP9

  Turnaround time: 33 working days

• Beta-thalassemia (HBB gene, NGS)

  Code 10375 · Next-generation sequencing (NGS)

  Genes: HBB

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome, c.1285delC and c.1285dupC mutations, FLCN gene

  Code 10376 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (c.1285 mutation)

  Code 3143 · Sequencing

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (familial variant)

  Code 3144 · Sequencing

  Genes: FLCN

  Turnaround time: 24 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, 14 exons, sequencing)

  Code 3299 · Sanger sequencing

  Genes: FLCN, 14 exões

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, NGS)

  Code 10377 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Blau syndrome (NOD2 gene, NGS)

  Code 10387 · Next-generation sequencing (NGS)

  Genes: NOD2

  Turnaround time: 33 working days

• Bloom syndrome (BLM gene, NGS)

  Code 10389 · Next-generation sequencing (NGS)

  Genes: BLM

  Turnaround time: 33 working days

• BNAR syndrome (FREM1 gene, NGS)

  Code 10390 · Next-generation sequencing (NGS)

  Genes: FREM1

  Turnaround time: 33 working days

• Brachydactyly-mental retardation syndrome (HDAC4 gene, NGS)

  Code 10397 · Next-generation sequencing (NGS)

  Genes: HDAC4

  Turnaround time: 33 working days

• BRAF gene mutation analysis

  Code 3072 · PCR

  Genes: BRAF

  Turnaround time: 13 working days

• Branchio-oculo-facial syndrome (TFAP2A gene, NGS)

  Code 10391 · Next-generation sequencing (NGS)

  Genes: TFAP2A

  Turnaround time: 33 working days

• Branchio-oto-renal syndrome type 1 (EYA1 gene, NGS)

  Code 10392 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• BRESEK syndrome (MBTPS2 gene, NGS)

  Code 10399 · Next-generation sequencing (NGS)

  Genes: MBTPS2

  Turnaround time: 33 working days

• Bruck syndrome (PLOD2 gene, NGS)

  Code 10400 · Next-generation sequencing (NGS)

  Genes: PLOD2

  Turnaround time: 33 working days

• Brugada syndrome (21-gene panel, NGS)

  Code 10402 · Next-generation sequencing (NGS)

  Genes: ANK2, ANK3, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, GPD1L and 12 more

  Turnaround time: 33 working days

• Brugada syndrome (8-gene panel, NGS)

  Code 3244 · Next-generation sequencing (NGS)

  Genes: SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, HCN4

  Turnaround time: 33 working days

• Brugada syndrome (SCN5A gene, NGS)

  Code 10401 · Next-generation sequencing (NGS)

  Genes: SCN5A

  Turnaround time: 33 working days

• Brugada syndrome type 1 (SCN5A gene, sequencing)

  Code 3272 · Sanger sequencing

  Genes: SCN5A

  Turnaround time: 33 working days

• CADASIL [Notch3 gene mutations]

  Code 3024 · Molecular biology

  Genes: NOTCH3

  Turnaround time: 35 working days